The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

Abstract

The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, nextgeneration sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing. To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics (ESHG) held a series of workshops on 10 June 2010 in Gothenburg. This was part of an ESHG satellite symposium on the 'Changing landscape of genetic testing', co-organized by the ESHG Genetic Services Quality and Public and Professional Policy Committees. The audience consisted of a mix of geneticists, ethicists, social scientists and lawyers. In this paper, we summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. This paper covers ethics, clinical utility, primary care, genetic services and the blurring boundaries between healthcare and research. The application of the new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing (NGS)) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/ medical genetic services. The high resolution of these technologies will help clinical geneticists to diagnose more cases than before. However, the implementation raises challenges that need to be addressed to safeguard a scientifically robust, ethically sound and socially acceptable level of service provision. The interpretation of the results in terms of their clinical relevance and the predicted health status poses a challenge due to the wealth and complexity of the information obtained. Clinicians need to decide how much information should be given to patients, (1) related to the symptoms they were referred for, (2) on other information of immediate health consequences, (3) on the carrier status of autosomal recessive conditions and (4) on variants of uncertain nature. Laboratory experts (and bioinformaticians) need to interpret the significance of the results for the clinician, and take responsibility for what they do or do not report. With the cytogenetic and molecular genetic service technologies merging closer, perhaps now is also the time to provide an integrated lab service.Where incidental (ie, unsought or unexpected) findings concern currently unknown variants, common databases need to be developed to collect the evidence that becomes available. ...

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